Submissions for variant NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val)

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Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001060086	SCV001224748	uncertain significance	Familial focal epilepsy with variable foci	2022-02-04	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 854935). This variant has not been reported in the literature in individuals affected with DEPDC5-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1160 of the DEPDC5 protein (p.Asp1160Val).
Institute of Human Genetics, University of Leipzig Medical Center	RCV001724221	SCV001950121	uncertain significance	Epilepsy, familial focal, with variable foci 1	2021-08-23	criteria provided, single submitter	clinical testing

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